Canonical Allele Identifier: CA2739270257

Gene: BBS12

Linked Data

• ClinVar Variation Id: 2820216
• ClinVar RCV Id: RCV003634779

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743041del , CM000666.2:g.122743041del	GRCh38
NC_000004.11:g.123664196del , CM000666.1:g.123664196del	GRCh37
NC_000004.10:g.123883646del	NCBI36
NG_021203.1:g.15340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1149del MANE Select	ENSP00000319062.3:p.Asp383GlufsTer22
ENST00000314218.7:c.1149del	ENSP00000319062.3:p.Asp383GlufsTer22
ENST00000542236.5:c.1149del	ENSP00000438273.1:p.Asp383GlufsTer22
NM_001178007.1:c.1149del	NP_001171478.1:p.Asp383GlufsTer22
NM_152618.2:c.1149del	NP_689831.2:p.Asp383GlufsTer22
XM_011531680.1:c.1149del	XP_011529982.1:p.Asp383GlufsTer22
XM_011531680.2:c.1149del	XP_011529982.1:p.Asp383GlufsTer22
XM_017007831.1:c.1149del	XP_016863320.1:p.Asp383GlufsTer22
NM_152618.3:c.1149del MANE Select	NP_689831.2:p.Asp383GlufsTer22
NM_001178007.2:c.1149del	NP_001171478.1:p.Asp383GlufsTer22